Varaico: Literature-Extracted Genetic Variants

PIK3CG

507 papers

RefSeq Summary

Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I ca...

Pfam Domains

PIK3CG_ABDaa 1–192UCSCPIK3 catalytic subunit gamma adaptor-binding domain

PI3K_rbdaa 203–312UCSCPI3-kinase family, ras-binding domain

PI3K_C2aa 377–519UCSCPhosphoinositide 3-kinase C2

PI3Kaaa 543–733UCSCPhosphoinositide 3-kinase family, accessory domain (PIK domain)

PI3_PI4_kinaseaa 827–1044UCSCPhosphatidylinositol 3- and 4-kinase

Gene Aliases

HGNC Name

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

HGNC Previous Names

phosphoinositide-3-kinase, catalytic, gamma polypeptide; phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001282426.2

p.H336Q

c.1008T>G

Surrounding Variants

2 papers

NM_001282426.2

p.H336Q

c.1008T>A

1 paper

NM_001282426.2

p.Y335Y

c.1005C>T

1 paper

NM_001282426.2

p.Y335Fs

c.1003delinsGAFs

1 paper

NM_001282426.2

p.G334G

c.1002C>T

1 paper

NM_001282426.2

p.L339P

c.1016T>C

1 paper

NM_001282426.2

p.T330M

c.989C>T

1 paper

NM_001282426.2

p.T330A

c.988A>G

1 paper

NM_001282426.2

p.C329*

c.987C>A

1 paper

NM_001282426.2

p.K344Q

c.1030A>C

4 papers

NM_001282426.2

p.D327D

c.981T>C

1 paper

NM_001282426.2

p.D327fs

c.979_980fs

5 papers

NM_001282426.2

p.E347K

c.1039G>A